Thymidine phosphorylase deficiency causes MNGIE: An autosomal recessive mitochondrial disorder

Nucleosides, Nucleotides and Nucleic Acids

Volumn 23, Issue 8-9, 2004, Pages 1217-1225

  Hirano, M ^a   Marti R ^a,b   Spinazzola, A ^a,c   Nishino, I ^a,d   Nishigaki, Y ^a,d  

^a Columbia Univ Coll of Phys/Surg ^*  (United States)

^b Hospital de la Santo Crew   (Spain)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Mitochondria; Mitochondrial DNA; MNGIE; Thymidine and deoxyuridine; Thymidine phosphorylase

Indexed keywords

THYMIDINE PHOSPHORYLASE;

AUTOSOMAL RECESSIVE DISORDER; CATALYSIS; CONFERENCE PAPER; DNA SEQUENCE; DNA SYNTHESIS; ENZYME DEFICIENCY; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL RESPIRATION; MNGIE SYNDROME; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION;

BLOTTING, SOUTHERN; BRAIN DISEASES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MITOCHONDRIAL DISEASES; MODELS, BIOLOGICAL; MUSCULAR DISEASES; MUTATION; POINT MUTATION; SPECTROPHOTOMETRY; THYMIDINE; THYMIDINE PHOSPHORYLASE;

EID: 10344248199     PISSN: 15257770     EISSN: None     Source Type: Journal    
DOI: 10.1081/NCN-200027485     Document Type: Conference Paper

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